| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Sitosterolemia 2 +4 more | |
| | | Single nucleotide variant (intron variant) | Thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | Sitosterolemia 1 +5 more | GConflicting classifications of pathogenicity |
| | | Deletion | Gingival bleeding +6 more | |
Click to view in NCBI Gene